Overview

Reproductive carrier screening will tell you if you are a carrier for three commonly inherited genetic conditions: cystic fibrosis (CF), fragile X syndrome (FXS) and spinal muscular atrophy (SMA). Anyone can be a carrier of a genetic condition, even if no one in your family has that condition.

Being a carrier usually does not affect your own health, but may affect the health of any children you have.

Why have carrier screening?

Having carrier screening before, or during early pregnancy, gives you information about your chance of having a child with one of these conditions. About 1-2% of couples who have screening find out they have an increased chance of having a child with an inherited genetic condition.

When to have screening?

Carrier screening is ideally done before getting pregnant. However, it can be done within the first 12 weeks of pregnancy. Screening can be done using a saliva or blood sample.

(Archibald, A. D., et al (2018). Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genetics in Medicine, 20(5), 513-523.)

prepair patient video

What is this test?

VCGS offers two types of carrier screening:

  • prepair carrier screening – looks for three common genetic conditions.
  • Expanded carrier screening – looks at over 250 genetic conditions (through international provider Invitae).

Cost

  • The prepair test costs $389 (AUD) per individual. It is recommended that the biological mother (or prospective biological mother) is screened first (partner testing is free if required).
  • Expanded screening through VCGS costs approximately $900 (AUD) per couple. It is recommended that both partners are tested at the same time.

Both types of screening are not currently covered by Medicare or private health insurance.

What conditions does this test look for?

prepair carrier screening

prepair looks for three common genetic conditions in our population: cystic fibrosis (CF), fragile X syndrome (FXS) and spinal muscular atrophy (SMA). Testing is also available for these conditions individually (please contact us for information).

It is very common to be a carrier of at least one of these conditions – about 1 in 20 individuals is a carrier of either CF, FXS or SMA. These three conditions account for most couples found to have a high chance of having a child with a genetic condition.

(Archibald, A. D., et al (2018). Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genetics in Medicine, 20(5), 513-523.)
  • Cystic fibrosis (CF) is an inherited condition that primarily affects the lungs and digestive system. Individuals with CF develop an abnormal amount of thick mucus within the lungs and gut. See Cystic Fibrosis Australia for more information.
  • Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability. See the Fragile X Association of Australia for more information.
  • Spinal muscular atrophy (SMA) is a condition that affects nerves in the spinal cord and causes muscles to get weaker. See SMA Australia for more information.

Expanded carrier screening

Expanded screening looks at over 250 genetic conditions. This includes both common and rare conditions. Most people are carriers for at least one of these conditions. For this reason, we recommend screening both partners at the same time. If both partners are carriers for the same condition, or if the female partner is a carrier for a condition on the X chromosome, the couple will have an increased chance of having a child with the genetic condition.

View a full list of the conditions covered in the expanded carrier screen.

How do I arrange a test?

Step 1: Discuss reproductive carrier screening with your doctor or genetic counsellor – including the difference between prepair and expanded options. If appropriate, they will complete a test request form.

Step 2:

  • For prepair - testing can be performed using blood or saliva. On our website you can find collection sites, or arrange for a saliva kit to be sent to you.
  • For expanded testing - email a copy of your request form to [email protected] and we will send you specific saliva kits. If you’re already pregnant, we may request blood samples from both partners instead.

Step 3: Results will be available from your doctor. In some cases, your doctor might refer you to one of our genetic counsellors for your results.

Talk to us.

Comprehensive information and support is freely available with reproductive carrier screening. We can answer all of your questions.

P: (03) 9936 6402
E: [email protected]

Frequently asked questions

What happens if prepair shows I’m a carrier?

If you are found to be a carrier of CF, FXS or SMA, one of our genetic counsellors will contact your doctor to discuss the result, and further testing options.

Do I need carrier screening every time I get pregnant?

No. Once your carrier status is known, you do not need to be re-tested. If you are a carrier of one of these conditions and you have a new partner, your partner may need to be tested.

How will I get my results?

prepair results will be faxed and delivered electronically (where available) to your referring doctor. This can take up to two weeks.

I’ve received an invoice from VCGS – how do I pay?

After testing is complete, patients will receive an invoice. This can be paid by phone using BPAY or credit card, or by mail using a money order or cheque. Payment methods are detailed on the invoice.

If you wish to speak with someone about your invoice: Free Call: 1300 557 779.